ClinVar for Gene (Select 103021296) - ClinVar - NCBI

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Links from Gene

Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3319342	NM_052934.4(SLC26A9):c.103G>A (p.Glu35Lys)	SLC26A9, SLC26A9-AS1 (E35K)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3319339	NM_052934.4(SLC26A9):c.15G>T (p.Arg5Ser)	SLC26A9, SLC26A9-AS1 (R5S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3319338	NM_052934.4(SLC26A9):c.64G>A (p.Asp22Asn)	SLC26A9, SLC26A9-AS1 (D22N)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3163903	NM_052934.4(SLC26A9):c.113G>T (p.Arg38Leu)	SLC26A9, SLC26A9-AS1 (R38L)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2464334	NM_052934.4(SLC26A9):c.25G>A (p.Val9Met)	SLC26A9, SLC26A9-AS1 (V9M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380877	NM_052934.4(SLC26A9):c.20G>A (p.Arg7His)	SLC26A9, SLC26A9-AS1 (R7H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 545154	NC_000001.11:g.(?_204033173)_(208209798_?)del	LOC129932391, PIK3C2B +278 more	Deletion	Autism	GLikely pathogenic
Select item 153790	GRCh38/hg38 1q32.1-42.12(chr1:204764914-225408698)x3	LOC129388734, LOC129388735 +723 more	Copy number gain	See cases	GPathogenic
Select item 58112	GRCh38/hg38 1q31.1-42.11(chr1:187143981-224299417)x3	LOC129932539, LOC129932540 +1148 more	Copy number gain	See cases	GPathogenic